{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA242278",
  "communityStandardTitle": [
    "NM_000264.5(PTCH1):c.3960A>G (p.Arg1320=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=192882[alleleid]",
        "alleleId": 192882,
        "preferredName": "NM_000264.5(PTCH1):c.3960A>G (p.Arg1320=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/195721",
        "RCV": [
          "RCV000176357",
          "RCV000197006",
          "RCV001021531"
        ],
        "variationId": 195721
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-98209578-T-C",
        "id": "9-98209578-T-C",
        "variant": "9:98209578 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.98209578T>C?assembly=hg19",
        "id": "chr9:g.98209578T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.95447296T>C?assembly=hg38",
        "id": "chr9:g.95447296T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/371761874",
        "rs": 371761874
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-98209578-T-C?dataset=gnomad_r2_1",
        "id": "9-98209578-T-C",
        "variant": "9:98209578 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-95447296-T-C?dataset=gnomad_r3",
        "id": "9-95447296-T-C",
        "variant": "9:95447296 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-95447296-T-C?dataset=gnomad_r4",
        "id": "9-95447296-T-C",
        "variant": "9:95447296 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 95447296,
          "referenceAllele": "T",
          "start": 95447295
        }
      ],
      "hgvs": [
        "NC_000009.12:g.95447296T>C",
        "CM000671.2:g.95447296T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 98209578,
          "referenceAllele": "T",
          "start": 98209577
        }
      ],
      "hgvs": [
        "NC_000009.11:g.98209578T>C",
        "CM000671.1:g.98209578T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 97249399,
          "referenceAllele": "T",
          "start": 97249398
        }
      ],
      "hgvs": [
        "NC_000009.10:g.97249399T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 74670,
          "referenceAllele": "A",
          "start": 74669
        }
      ],
      "hgvs": [
        "NG_007664.1:g.74670A>G",
        "LRG_515:g.74670A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000667"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4262,
          "referenceAllele": "A",
          "start": 4261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000711046.1:c.3762A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518556.1:p.Arg1254="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914577"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4108,
          "referenceAllele": "A",
          "start": 4107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.6:c.3957A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.2:p.Arg1319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824905",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.3957A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.3957A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Arg1319="
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Arg1319="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2157,
          "referenceAllele": "A",
          "start": 2156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000687744.1:n.2157A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831242"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3783,
          "referenceAllele": "A",
          "start": 3782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000690194.1:c.*2268A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509379.1:n.*2268A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832578"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3648,
          "referenceAllele": "A",
          "start": 3647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000692981.1:c.3507A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510238.1:p.Arg1169="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834000"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1307,
          "referenceAllele": "A",
          "start": 1306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000693534.1:n.1307A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834291"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4865,
          "referenceAllele": "A",
          "start": 4864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.11:c.3960A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Arg1320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.3960A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.3960A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Arg1320="
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Arg1320="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4260,
          "referenceAllele": "A",
          "start": 4259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.10:c.3960A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Arg1320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259486"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4102,
          "referenceAllele": "A",
          "start": 4101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375274.6:c.3957A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364423.2:p.Arg1319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270641"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7266,
          "referenceAllele": "A",
          "start": 7265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375290.6:c.7266A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364439.2:n.7266A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270645"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4022,
          "referenceAllele": "A",
          "start": 4021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000418258.5:c.3507A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396135.1:p.Arg1169="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285320"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3866,
          "referenceAllele": "A",
          "start": 3865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000421141.5:c.3507A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399981.1:p.Arg1169="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286658"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3948,
          "referenceAllele": "A",
          "start": 3947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000429896.6:c.3507A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414823.2:p.Arg1169="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290874"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4348,
          "referenceAllele": "A",
          "start": 4347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000430669.6:c.3762A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410287.2:p.Arg1254="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291255"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4256,
          "referenceAllele": "A",
          "start": 4255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.5:c.3762A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.1:p.Arg1254="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294693"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1024,
          "referenceAllele": "A",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000546744.5:n.1024A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365841"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825122563",
      "coordinates": [
        {
          "allele": "G",
          "end": 4148,
          "referenceAllele": "A",
          "start": 4147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.3:c.3960A>G",
        "LRG_515t1:c.3960A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Arg1320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006326"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825487486",
      "coordinates": [
        {
          "allele": "G",
          "end": 4256,
          "referenceAllele": "A",
          "start": 4255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.1:c.3762A>G",
        "LRG_515t2:c.3762A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Arg1254="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010399"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825498312",
      "coordinates": [
        {
          "allele": "G",
          "end": 4102,
          "referenceAllele": "A",
          "start": 4101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.1:c.3957A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Arg1319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010400"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825505058",
      "coordinates": [
        {
          "allele": "G",
          "end": 3866,
          "referenceAllele": "A",
          "start": 3865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.1:c.3507A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Arg1169="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825508357",
      "coordinates": [
        {
          "allele": "G",
          "end": 3849,
          "referenceAllele": "A",
          "start": 3848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.1:c.3507A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Arg1169="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825511354",
      "coordinates": [
        {
          "allele": "G",
          "end": 3948,
          "referenceAllele": "A",
          "start": 3947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.1:c.3507A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Arg1169="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825514098",
      "coordinates": [
        {
          "allele": "G",
          "end": 4022,
          "referenceAllele": "A",
          "start": 4021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.1:c.3507A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Arg1169="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010404"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3706,
          "referenceAllele": "A",
          "start": 3705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_005252102.2:c.3507A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252159.1:p.Arg1169="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059832"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4004,
          "referenceAllele": "A",
          "start": 4003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518868.1:c.3804A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517170.1:p.Arg1268="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086042"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3655,
          "referenceAllele": "A",
          "start": 3654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518869.1:c.3507A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517171.1:p.Arg1169="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086043"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3643,
          "referenceAllele": "A",
          "start": 3642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518870.1:c.3507A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517172.1:p.Arg1169="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086044"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3630,
          "referenceAllele": "A",
          "start": 3629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518871.1:c.3507A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517173.1:p.Arg1169="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086045"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3613,
          "referenceAllele": "A",
          "start": 3612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518872.1:c.3507A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517174.1:p.Arg1169="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086046"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3407,
          "referenceAllele": "A",
          "start": 3406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518873.1:c.3120A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517175.1:p.Arg1040="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086047"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825122563",
      "coordinates": [
        {
          "allele": "G",
          "end": 4148,
          "referenceAllele": "A",
          "start": 4147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.4:c.3960A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Arg1320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510773"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825487486",
      "coordinates": [
        {
          "allele": "G",
          "end": 4348,
          "referenceAllele": "A",
          "start": 4347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.2:c.3762A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Arg1254="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511271"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825498312",
      "coordinates": [
        {
          "allele": "G",
          "end": 4102,
          "referenceAllele": "A",
          "start": 4101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.2:c.3957A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Arg1319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511272"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825505058",
      "coordinates": [
        {
          "allele": "G",
          "end": 3866,
          "referenceAllele": "A",
          "start": 3865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.2:c.3507A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Arg1169="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511273"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825508357",
      "coordinates": [
        {
          "allele": "G",
          "end": 3849,
          "referenceAllele": "A",
          "start": 3848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.2:c.3507A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Arg1169="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825511354",
      "coordinates": [
        {
          "allele": "G",
          "end": 3948,
          "referenceAllele": "A",
          "start": 3947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.2:c.3507A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Arg1169="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511275"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825514098",
      "coordinates": [
        {
          "allele": "G",
          "end": 4022,
          "referenceAllele": "A",
          "start": 4021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.2:c.3507A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Arg1169="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511276"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828035369",
      "coordinates": [
        {
          "allele": "G",
          "end": 3992,
          "referenceAllele": "A",
          "start": 3991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.1:c.3804A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Arg1268="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522747"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3982,
          "referenceAllele": "A",
          "start": 3981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.1:n.3982A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531506"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825122563",
      "coordinates": [
        {
          "allele": "G",
          "end": 4865,
          "referenceAllele": "A",
          "start": 4864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.5:c.3960A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Arg1320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674767",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.3960A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.3960A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Arg1320="
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Arg1320="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825511354",
      "coordinates": [
        {
          "allele": "G",
          "end": 3958,
          "referenceAllele": "A",
          "start": 3957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.3:c.3507A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Arg1169="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676359"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828035369",
      "coordinates": [
        {
          "allele": "G",
          "end": 4709,
          "referenceAllele": "A",
          "start": 4708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.2:c.3804A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Arg1268="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690361"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4699,
          "referenceAllele": "A",
          "start": 4698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.2:n.4699A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704914"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825487486",
      "coordinates": [
        {
          "allele": "G",
          "end": 4262,
          "referenceAllele": "A",
          "start": 4261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.3:c.3762A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Arg1254="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711862"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825498312",
      "coordinates": [
        {
          "allele": "G",
          "end": 4108,
          "referenceAllele": "A",
          "start": 4107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.3:c.3957A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Arg1319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.3957A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.3957A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Arg1319="
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Arg1319="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825505058",
      "coordinates": [
        {
          "allele": "G",
          "end": 3866,
          "referenceAllele": "A",
          "start": 3865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.3:c.3507A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Arg1169="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825508357",
      "coordinates": [
        {
          "allele": "G",
          "end": 3849,
          "referenceAllele": "A",
          "start": 3848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.3:c.3507A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Arg1169="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711865"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825514098",
      "coordinates": [
        {
          "allele": "G",
          "end": 4022,
          "referenceAllele": "A",
          "start": 4021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.3:c.3507A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Arg1169="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711866"
    }
  ],
  "type": "nucleotide"
}